Canonical Allele Identifier: CA2523289531
Gene: IL12B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.159323000_159323001del , CM000667.2:g.159323000_159323001del GRCh38
NC_000005.9:g.158750008_158750009del , CM000667.1:g.158750008_158750009del GRCh37
NC_000005.8:g.158682586_158682587del NCBI36
NG_009618.1:g.12476_12477del , LRG_71:g.12476_12477del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696750.1:c.-148-2478_-148-2477del ENSP00000512849.1:n.-148-2478_-148-2477del
ENST00000696751.1:c.364+56_364+57del ENSP00000512850.1:n.364+56_364+57del
ENST00000231228.3:c.364+56_364+57del MANE Select ENSP00000231228.2:n.364+56_364+57del
ENST00000231228.2:c.364+56_364+57del ENSP00000231228.2:n.364+56_364+57del
NM_002187.2:c.364+56_364+57del , LRG_71t1:c.364+56_364+57del NP_002178.2:n.364+56_364+57del
XR_001742945.1:n.147+2404_147+2405del
NM_002187.3:c.364+56_364+57del MANE Select NP_002178.2:n.364+56_364+57del